Early onset dystoniaGene: DDC
Comment on list classification: Upgraded rating from Red to Green, in line with the review by Lothar Schlueter. Dystonia as a feature of the phenotype, most commonly arising in infancy. DDC is already Green on the GMS 'Childhood onset dystonia or chorea or related movement disorder' version 1.62 panel.
Created: 20 Nov 2020, 3:43 p.m. | Last Modified: 20 Nov 2020, 3:43 p.m.
Panel Version: 1.82
Dystonia has been reported as one of the key symptoms in patients with aromatic L-amino acid decarboxylase deficiency (AADCD) (63/117 patients, 54%, Wassenberg et al. 2017). Although it was not possible to describe the precise age of onset and duration for every symptom, the best available data suggest dystonia to be a key symptom from infancy onwards (Wassenberg et al. 2017). In children with dystonia (and other symptoms like hypotonia), other movement disorders (especially oculogyric crisis), developmental delay, and autonomic symptoms, AADCD should be considered. So far, in 123 known patients, 79 disease-causing variants in the DDC gene have been described and listed in the locus specific database PNDdb (http://biopku.org/home/pnddb.asp) (Himmelreich, 2019).
Created: 25 Feb 2020, 1:11 p.m. | Last Modified: 25 Feb 2020, 1:11 p.m.
Panel Version: 1.81
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis
Phenotypes for gene: DDC were changed from Dystonia to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084; Floppy child; Dystonia; Hypotonia; Developmental delay; Oculogyric crisis
Publications for gene: DDC were set to
Mode of inheritance for gene: DDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ddc has been classified as Green List (High Evidence).
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
DDC was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory